Canonical Allele Identifier: CA2582477140

Gene: LDLR SPC24

Linked Data

• gnomAD v4: 19-11131994-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11131994A>C , CM000681.2:g.11131994A>C	GRCh38
NC_000019.9:g.11242670A>C , CM000681.1:g.11242670A>C	GRCh37
NC_000019.8:g.11103670A>C	NCBI36
NG_009060.1:g.47614A>C , LRG_274:g.47614A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.*678A>C (LDLR)	ENSP00000252444.6:n.*678A>C
ENST00000559340.2:c.*1330A>C (LDLR)	ENSP00000453696.2:n.*1330A>C
ENST00000560467.2:c.*678A>C (LDLR)	ENSP00000453513.2:n.*678A>C
ENST00000558518.6:c.*678A>C (LDLR) MANE Select	ENSP00000454071.1:n.*678A>C
ENST00000252444.9:c.3515A>C (LDLR)
ENST00000558518.5:c.*678A>C (LDLR)	ENSP00000454071.1:n.*678A>C
ENST00000560628.1:n.109-1101A>C (LDLR)
ENST00000585567.5:c.540-387T>G (SPC24)	ENSP00000468818.1:n.540-387T>G
NM_000527.4:c.*678A>C , LRG_274t1:c.*678A>C (LDLR)	NP_000518.1:n.*678A>C
NM_001195798.1:c.*678A>C (LDLR)	NP_001182727.1:n.*678A>C
NM_001195799.1:c.*678A>C (LDLR)	NP_001182728.1:n.*678A>C
NM_001195800.1:c.*678A>C (LDLR)	NP_001182729.1:n.*678A>C
NM_001195803.1:c.*678A>C (LDLR)	NP_001182732.1:n.*678A>C
XM_011528010.1:c.*678A>C (LDLR)	XP_011526312.1:n.*678A>C
XM_011528011.1:c.*678A>C (LDLR)	XP_011526313.1:n.*678A>C
XM_011528010.2:c.*678A>C (LDLR)	XP_011526312.1:n.*678A>C
XR_001753685.2:n.3595A>C (LDLR)
XR_001753686.2:n.3238A>C (LDLR)
NM_000527.5:c.*678A>C (LDLR) MANE Select	NP_000518.1:n.*678A>C
NM_001195798.2:c.*678A>C (LDLR)	NP_001182727.1:n.*678A>C
NM_001195799.2:c.*678A>C (LDLR)	NP_001182728.1:n.*678A>C
NM_001195800.2:c.*678A>C (LDLR)	NP_001182729.1:n.*678A>C
NM_001195803.2:c.*678A>C (LDLR)	NP_001182732.1:n.*678A>C